Canonical Allele Identifier: CA354222174

Gene: ADCY5

Linked Data

• gnomAD v4: 3-123284732-G-A
• MyVariant Identifiers: chr3:g.123003579G>A (hg19) ; chr3:g.123284732G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123284732G>A , CM000665.2:g.123284732G>A	GRCh38
NC_000003.11:g.123003579G>A , CM000665.1:g.123003579G>A	GRCh37
NC_000003.10:g.124486269G>A	NCBI36
NG_033882.1:g.168814C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466617.6:c.2339C>T	ENSP00000420082.2:p.Thr780Ile
ENST00000470367.2:c.2627C>T	ENSP00000514541.1:p.Thr876Ile
ENST00000483566.2:c.2339C>T	ENSP00000420252.2:p.Thr780Ile
ENST00000699714.1:c.2339C>T	ENSP00000514539.1:p.Thr780Ile
ENST00000699715.1:c.2339C>T	ENSP00000514540.1:p.Thr780Ile
ENST00000699716.1:c.2339C>T	ENSP00000514542.1:p.Thr780Ile
ENST00000699717.1:n.2065C>T
ENST00000699718.1:c.3737C>T	ENSP00000514543.1:p.Thr1246Ile
ENST00000462833.6:c.3662C>T MANE Select	ENSP00000419361.1:p.Thr1221Ile
ENST00000309879.9:c.2612C>T	ENSP00000308685.5:p.Thr871Ile
ENST00000462833.5:c.3662C>T	ENSP00000419361.1:p.Thr1221Ile
ENST00000478092.1:n.432C>T
ENST00000491190.5:c.2636C>T	ENSP00000418537.1:p.Thr879Ile
NM_001199642.1:c.2612C>T	NP_001186571.1:p.Thr871Ile
NM_183357.2:c.3662C>T	NP_899200.1:p.Thr1221Ile
XM_005247077.2:c.3737C>T	XP_005247134.1:p.Thr1246Ile
XM_005247078.1:c.2687C>T	XP_005247135.1:p.Thr896Ile
XM_006713483.1:c.2636C>T	XP_006713546.1:p.Thr879Ile
XM_006713484.1:c.2414C>T	XP_006713547.1:p.Thr805Ile
XM_011512359.1:c.2738C>T	XP_011510661.1:p.Thr913Ile
XM_011512360.1:c.2648C>T	XP_011510662.1:p.Thr883Ile
XM_011512361.1:c.2414C>T	XP_011510663.1:p.Thr805Ile
XM_005247077.4:c.3737C>T	XP_005247134.1:p.Thr1246Ile
XM_011512359.2:c.2738C>T	XP_011510661.1:p.Thr913Ile
XM_011512360.3:c.2648C>T	XP_011510662.1:p.Thr883Ile
XM_017005638.1:c.2639C>T	XP_016861127.1:p.Thr880Ile
XM_017005639.1:c.2639C>T	XP_016861128.1:p.Thr880Ile
NM_001378259.1:c.3737C>T	NP_001365188.1:p.Thr1246Ile
NM_183357.3:c.3662C>T MANE Select	NP_899200.1:p.Thr1221Ile